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Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi, Paola; Fermo, Elisa; Lezon-Geyda, Kimberly; van Beers, Eduard J; Morton, Holmes D; Barcellini, Wilma; Glader, Bertil; Chonat, Satheesh; Ravindranath, Yaddanapudi; Newburger, Peter E; Kollmar, Nina; Despotovic, Jenny M; Verhovsek, Madeleine; Sharma, Mukta; Kwiatkowski, Janet L; Kuo, Kevin H M; Wlodarski, Marcin W; Yaish, Hassan M; Holzhauer, Susanne; Wang, Heng; Kunz, Joachim; Addonizio, Kathryn; Al-Sayegh, Hasan; London, Wendy B; Andres, Oliver; van Wijk, Richard; Gallagher, Patrick G; Grace, Rachael F F.
Afiliação
  • Bianchi P; U.O.C. Ematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Fermo E; U.O.C. Ematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Lezon-Geyda K; Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • van Beers EJ; Division Internal Medicine and Dermatology, Van Creveldkliniek, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Morton HD; Central Pennsylvania Clinic for Special Children & Adults, Belleville, PA; Lancaster General Hospital, Lancaster, PA.
  • Barcellini W; U.O.C. Ematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Glader B; Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA.
  • Chonat S; Department of Pediatrics, Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.
  • Ravindranath Y; School of Medicine, Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI.
  • Newburger PE; Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA.
  • Kollmar N; Department of Pediatric Hematology/Oncology, Klinikum Kassel GmbH, Kassel, Germany.
  • Despotovic JM; Texas Children's Hematology Center, Baylor College of Medicine, Houston, TX.
  • Verhovsek M; Department of Medicine, McMaster University, Hamilton, ON, Canada.
  • Sharma M; Department of Pediatrics, Children's Mercy, School of Medicine University of Missouri, Kansas City, MO.
  • Kwiatkowski JL; Division of Hematology, Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Kuo KHM; Division of Hematology, Department of Medicine, University Health Network, University of Toronto, Toronto, Ontario, Canada.
  • Wlodarski MW; St. Jude Children's Research Hospital, Memphis, TN.
  • Yaish HM; Primary Children's Hospital, University of Utah, Salt Lake City, UT.
  • Holzhauer S; Charité, University Medicine, Pediatric Hematology and Oncology, Berlin, Germany.
  • Wang H; DDC Clinic for Special Needs Children, Middlefield, OH.
  • Kunz J; Zentrumfür Kinder-und Jugendmedizin, Heidelberg, Germany.
  • Addonizio K; Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
  • Al-Sayegh H; Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
  • London WB; Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
  • Andres O; Department of Pediatrics, University of Würzburg, Würzburg, Germany.
  • van Wijk R; Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Gallagher PG; Department of Pediatrics, Department of Genetics, Department of Pathology, Yale University School of Medicine, New Haven, CT.
  • Grace RFF; Department of Pediatrics, University of Würzburg, Würzburg, Germany.
Am J Hematol ; 95(5): 472-482, 2020 05.
Article em En | MEDLINE | ID: mdl-32043619
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Erros Inatos do Metabolismo dos Piruvatos / Estudos de Associação Genética / Anemia Hemolítica Congênita não Esferocítica Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Erros Inatos do Metabolismo dos Piruvatos / Estudos de Associação Genética / Anemia Hemolítica Congênita não Esferocítica Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália